title: Study of VSX1 mutations in patients with keratoconus in southwest Iran using PCR-single-strand conformation polymorphism/heteroduplex analysis and sequencing method.
abstract: OBJECTIVE
  Keratoconus (KC) is an eye disorder in which the cornea is swollen, thinned and deformed. Despite extensive studies, the pathophysiological processes and genetic etiology of KC are unknown. The disease incidence is approximately 1 in 2,000, and it is the most common cause of corneal transplantation in the USA. Many genes are involved in the disease, but evidence suggests a major role for VSX1 in the etiology of KC. This study aimed to determine the frequency of mutations in exons 2, 3 and 4 of the VSX1 gene in Chaharmahal va Bakhtiari province in the southwest of Iran.
  
  
  METHODS
  In this experimental study, mutations in 3 exons, namely exons 2, 3 and 4, of VSX1 were investigated in 50 patients with KC and 50 healthy control subjects. DNA was extracted using a standard phenol-chloroform method. PCR-single-strand conformational polymorphism/heteroduplex analysis was performed, followed by DNA sequencing to confirm the identified motility shifts.
  
  
  RESULTS
  H244R mutations were found in 1 patient and also in 1 healthy control subject. Furthermore, 12 polymorphisms were identified in patients with KC and 7 in healthy control subjects [rs6138482 and c.546A>G (rs12480307)].
  
  
  CONCLUSIONS
  Our investigation showed that KC-related VSX1 mutations were found in a very small proportion of the studied patients from Iran. Further investigations on other genes are needed to clarify their roles in KC pathogenesis.
authors.affiliation: Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.
authors.forename: Fatemeh Azadegan
authors.initials: FA
authors.lastname: Dehkordi
authors.forename: Ahmad
authors.initials: A
authors.lastname: Rashki
authors.forename: Nader
authors.initials: N
authors.lastname: Bagheri
authors.forename: Minoo Hashemzadeh
authors.initials: MH
authors.lastname: Chaleshtori
authors.forename: Ezzatollah
authors.initials: E
authors.lastname: Memarzadeh
authors.forename: Ali
authors.initials: A
authors.lastname: Salehi
authors.forename: Homan
authors.initials: H
authors.lastname: Ghatreh
authors.forename: Farid
authors.initials: F
authors.lastname: Zandi
authors.forename: Nasrin
authors.initials: N
authors.lastname: Yazdanpanahi
authors.forename: Mohammad Amin
authors.initials: MA
authors.lastname: Tabatabaiefar
authors.forename: Morteza Hashemzadeh
authors.initials: MH
authors.lastname: Chaleshtori
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D020180:Heteroduplex Analysis / Q000379:methods*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007492:Iran; D007640:Keratoconus / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; C491583:VSX1 protein, human